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Fibrocystic liver disease refers to a heterogeneous group of disorders with shared, but also distinct, pathophysiologic and clinical features. Cystic dilatation of intrahepatic bile duct structures and variable degrees of portal fibrosis are the hallmarks of fibrocystic liver disease. In many instances, there are morphologic abnormalities in the kidneys that parallel those of the liver. It has been recognized for centuries that hepatic and renal cysts are seen in the same individuals , although it has not always been accepted that they are manifestations of the same diseases. The older literature contains confusing descriptive classifications of fibrocystic diseases, with imprecise and overlapping definitions. Even now, attempts at describing clinical and radiographic features, prognosis, natural history, and treatment are somewhat hampered by reliance on these descriptive reports. However, much of the molecular basis for these disorders has been elucidated, and clinical diagnoses are being modified using more exact genetic criteria. The current consensus is that genetic determinants of differentiation and development of renal tubules and biliary structures result in a broad spectrum of congenital abnormalities grouped under the heading of fibrocystic liver and kidney disease.
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